Related gene-specific medical variations for Gene (Select 583) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302211	NM_018233.4(OGFOD1):c.1098T>A (p.His366Gln)	BBS2, OGFOD1 (H269Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3302207	NM_018233.4(OGFOD1):c.1316T>A (p.Leu439Gln)	BBS2, OGFOD1 (L438Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248610	NM_031885.5(BBS2):c.926C>T (p.Ser309Leu)	BBS2 (S309L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 3243397	NC_000016.9:g.(?_56530859)_(56536740_?)dup	BBS2	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3243396	NC_000016.9:g.(?_56535245)_(56536740_?)del	BBS2	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3240887	NM_031885.5(BBS2):c.791G>A (p.Trp264Ter)	BBS2 (W264*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3240886	NM_031885.5(BBS2):c.2077del (p.Gln693fs)	BBS2 (Q693fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3240885	NM_031885.5(BBS2):c.1163C>G (p.Ser388Ter)	BBS2 (S388*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3240884	NM_031885.5(BBS2):c.1269del (p.Phe423fs)	BBS2 (F423fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3240883	NM_031885.5(BBS2):c.975_985del (p.Arg325fs)	BBS2 (R325fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3240882	NM_031885.5(BBS2):c.612+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GPathogenic
Select item 3240881	NM_031885.5(BBS2):c.1910+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3240880	NM_031885.5(BBS2):c.1225+2T>G	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3239708	NM_031885.5(BBS2):c.856del (p.Ser286fs)	BBS2 (S286fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3204109	NM_018233.4(OGFOD1):c.1510T>C (p.Tyr504His)	BBS2, OGFOD1 (Y466H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204108	NM_018233.4(OGFOD1):c.1281G>C (p.Lys427Asn)	BBS2, OGFOD1 (K330N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3075697	NM_031885.5(BBS2):c.650T>G (p.Phe217Cys)	BBS2 (F217C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3068092	NM_031885.5(BBS2):c.118-2A>G	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3026498	NC_000016.10:g.56570686G>T	BBS2	Single nucleotide variant	not provided	GUncertain significance
Select item 3024873	NM_018233.4(OGFOD1):c.1584A>C (p.Pro528=)	BBS2, OGFOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2920655	NM_031885.5(BBS2):c.509A>G (p.Asp170Gly)	BBS2 (D170G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680029	NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)	BBS2 (L93*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680028	NM_031885.5(BBS2):c.534+2T>C	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680027	NM_031885.5(BBS2):c.941-1G>A	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680026	NM_031885.5(BBS2):c.346-1G>C	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680025	NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)	BBS2 (N121fs)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680023	NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)	BBS2 (K599*)	Duplication (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680021	NM_031885.5(BBS2):c.184dup (p.Leu62fs)	BBS2 (L62fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680019	NM_031885.5(BBS2):c.559dup (p.Asp187fs)	BBS2 (D187fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680018	NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)	BBS2 (Q343*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680017	NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)	BBS2 (Q532*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680016	NM_031885.5(BBS2):c.406dup (p.Ala136fs)	BBS2 (A136fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680015	NM_031885.5(BBS2):c.940+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680014	NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)	BBS2 (L486fs)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680013	NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)	BBS2 (G218D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2	GConflicting classifications of pathogenicity
Select item 2680012	NM_031885.5(BBS2):c.1725dup (p.Ala576fs)	BBS2 (A576fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680011	NM_031885.5(BBS2):c.284_285del (p.Gly95fs)	BBS2 (G95fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680010	NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)	BBS2 (Y648*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680009	NM_031885.5(BBS2):c.2059+1del	BBS2	Deletion (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680008	NM_031885.5(BBS2):c.1355del (p.Pro452fs)	BBS2 (P452fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680007	NM_031885.5(BBS2):c.1225+2dup	BBS2	Duplication (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680005	NM_031885.5(BBS2):c.157del (p.Ser53fs)	BBS2 (S53fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2646548	NC_000016.10:g.56570676C>T	BBS2	Single nucleotide variant	not provided	GLikely benign
Select item 2562109	NM_018233.4(OGFOD1):c.1112C>T (p.Ser371Leu)	BBS2, OGFOD1 (S231L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502268	NM_018233.4(OGFOD1):c.1467+11_1467+13del	BBS2, OGFOD1	Microsatellite (intron variant)	Retinitis pigmentosa 74 +1 more	GUncertain significance
Select item 2498311	NM_031885.5(BBS2):c.1555del (p.Leu519fs)	BBS2 (L519fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2498292	NM_031885.5(BBS2):c.383T>C (p.Leu128Ser)	BBS2 (L128S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2406505	NM_018233.4(OGFOD1):c.1547T>C (p.Ile516Thr)	BBS2, OGFOD1 (I376T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380657	NM_018233.4(OGFOD1):c.1556G>A (p.Arg519Gln)	BBS2, OGFOD1 (R464Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281848	NM_018233.4(OGFOD1):c.1609T>G (p.Ser537Ala)	BBS2, OGFOD1 (S537A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252369	NM_018233.4(OGFOD1):c.1444A>T (p.Ile482Phe)	BBS2, OGFOD1 (I342F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240290	NM_018233.4(OGFOD1):c.1583C>G (p.Pro528Arg)	BBS2, OGFOD1 (P388R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526512	GRCh37/hg19 16q12.2(chr16:56521157-56554379)	BBS2	Copy number loss	not specified	GUncertain significance
Select item 591232	NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg)	BBS2 (G375R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +1 more	GUncertain significance
Select item 591165	NM_031885.5(BBS2):c.1112del (p.Asp371fs)	BBS2 (D371fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 261982	NM_031885.5(BBS2):c.612+42T>C	BBS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 261979	NM_031885.5(BBS2):c.117+27C>T	BBS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 4582	BBS2, THR560ILE	BBS2	Variation	Bardet-biedl syndrome 2/4, digenic	GPathogenic
Select item 4581	BBS2, LEU168FS, TER170	BBS2	Variation	BARDET-BIEDL SYNDROME 2/6, DIGENIC	GPathogenic
Select item 4575	BBS2, CYS210FS, TER246	BBS2	Variation	Bardet-Biedl syndrome 2	GPathogenic
Select item 4574	BBS2, ASP170FS, TER171	BBS2	Variation	Bardet-biedl syndrome 1/2, digenic	GPathogenic

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Items: 61